Table 3: Comparison of the relative catalytic velocities of ENPP1 variants with prior studies.
The relative catalytic velocities determined herein (Ansh activity) are listed compared with prior studies. There is good concordance with prior measurements with two exceptions: L611V and R481W. See text for discussion.
| Pathogenic Variant | Ansh activity | Prior activity 1 | Ref. activiy 1 | Prior activity 2 | Ref. activity 2 |
|---|---|---|---|---|---|
| C126R | 0% | 3% | [52] | ||
| K173Q | 63% | 66% | [47] | 83% | [52] |
| C195R | 0% | 0% | [47] | ||
| Y301C | 49% | 0% | [47] | ||
| P305T | 4% | 0% | [47] | ||
| R456Q | 2% | 11% | [52] | ||
| Y471C | 33% | 43% | [52] | ||
| R481W | 68% | 37% | [52] | ||
| S504R | 8% | 51% | [47] | ||
| L579F | 0% | 0% | [52] | ||
| L611V | 111% | 0% | [52] | ||
| Y659C | 11% | 41% | [47] | ||
| E668K | 74% | 100% | [47] | 70% | [52] |
| R774C | 26% | 57% | [47] | 36% | [52] |
| H777R | 9% | 38% | [47] | ||
| N792S | 26% | 17% | [52] | ||
| R821H | 107% | 88% | [47] | ||
| R888W | 4% | 0% | [47] | ||
| K905fsX15 | 0% | 0% | [52] |